American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 July 2006

Volume 140A, Issue 14

Pages 1491–1616

  1. New Syndrome

    1. Top of page
    2. New Syndrome
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
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  2. Rapid Publications

    1. Top of page
    2. New Syndrome
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies (pages 1497–1503)

      Cheryl Shuman, Adam C. Smith, Leslie Steele, Peter N. Ray, Carol Clericuzio, Elaine Zackai, Melissa A. Parisi, Anna T. Meadows, Thaddeus Kelly, David Tichauer, Jeremy A. Squire, Paul Sadowski and Rosanna Weksberg

      Article first published online: 12 JUN 2006 | DOI: 10.1002/ajmg.a.31323

  3. Research Articles

    1. Top of page
    2. New Syndrome
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation (pages 1504–1510)

      Anna Rajab, Seung-Yun Yoo, Aiman Abdulgalil, Salem Kathiri, Riaz Ahmed, Ganeshwaran H. Mochida, Adria Bodell, A. James Barkovich and Christopher A. Walsh

      Article first published online: 7 JUN 2006 | DOI: 10.1002/ajmg.a.31288

    2. The near universal presence of autism spectrum disorders in children with Smith–Lemli–Opitz syndrome (pages 1511–1518)

      Darryn M. Sikora, Kersti Pettit-Kekel, Jennifer Penfield, Louise S. Merkens and Robert D. Steiner

      Article first published online: 7 JUN 2006 | DOI: 10.1002/ajmg.a.31294

    3. Consanguineous marriage and congenital heart defects: A case-control study in the neonatal period (pages 1524–1530)

      Yunis Khalid, Mumtaz Ghina, Bitar Fadi, Chamseddine Fadi, Kassar May, Rashkidi Joseph, Ghaith Makhoul and Tamim Hala

      Article first published online: 8 JUN 2006 | DOI: 10.1002/ajmg.a.31309

    4. Mutational and genotype–phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome (pages 1531–1541)

      Jiong Yan, Gulam Mustafa Saifi, Tomasz H. Wierzba, Marjorie Withers, Gabriel A. Bien-Willner, Janusz Limon, Paweł Stankiewicz, James R. Lupski and Jolanta Wierzba

      Article first published online: 12 JUN 2006 | DOI: 10.1002/ajmg.a.31305

    5. Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity (pages 1542–1552)

      Jessie M. Cameron, Valeriy Levandovskiy, Neviana MacKay, Julian Raiman, Deborah L. Renaud, Joe T.R. Clarke, Annette Feigenbaum, Orly Elpeleg and Brian H. Robinson

      Article first published online: 12 JUN 2006 | DOI: 10.1002/ajmg.a.31313

    6. Osteocraniostenosis–hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology (pages 1553–1563)

      Alison M. Elliott, William R. Wilcox, Gerald S. Spear, Fiona M. Field, Thora S. Steffensen, Barbara D. Friedman, David L. Rimoin and Ralph S. Lachman

      Article first published online: 12 JUN 2006 | DOI: 10.1002/ajmg.a.31326

  4. Clinical Reports

    1. Top of page
    2. New Syndrome
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Genitopatellar syndrome: Expanding the phenotype and excluding mutations in LMX1B and TBX4 (pages 1567–1572)

      Omar A. Abdul-Rahman, Trang H. La, Andrea Kwan, Silke Schlaubitz, Greg S. Barsh, Gregory M. Enns and Louanne Hudgins

      Article first published online: 7 JUN 2006 | DOI: 10.1002/ajmg.a.31258

    2. Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS) (pages 1573–1579)

      Marco Castori, Francesco Brancati, Rosanna Rinaldi, Loredana Adami, Rita Mingarelli, Paola Grammatico and Bruno Dallapiccola

      Article first published online: 7 JUN 2006 | DOI: 10.1002/ajmg.a.31290

    3. Congenital diaphragmatic hernia associated with duplication of 11q23-qter (pages 1580–1586)

      M. Klaassens, D.A. Scott, M. van Dooren, R. Hochstenbach, H.J. Eussen, W.W. Cai, R.J. Galjaard, C. Wouters, M. Poot, J. Laudy, B. Lee, D. Tibboel and A. de Klein

      Article first published online: 12 JUN 2006 | DOI: 10.1002/ajmg.a.31321

    4. Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect (pages 1587–1593)

      Jennifer Takagishi, Katherine A. Rauen, Timothy Drumheller, Boris Kousseff and Maxine Sutcliffe

      Article first published online: 12 JUN 2006 | DOI: 10.1002/ajmg.a.31325

    5. Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q (pages 1594–1600)

      Chih-Ping Chen, Shuan-Pei Lin, Chyi-Chyang Lin, Yann-Jang Chen, Schu-Rern Chern, Yueh-Chun Li, Lie-Jiau Hsieh, Chen-Chi Lee, Chen-Wen Pan and Wayseen Wang

      Article first published online: 12 JUN 2006 | DOI: 10.1002/ajmg.a.31329

  5. Research Letters

    1. Top of page
    2. New Syndrome
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Renal malformations in deletion 22q11.2 patients (pages 1601–1602)

      Annegret Kujat, Marc D. Schulz, Sibylle Strenge and Ursula G. Froster

      Article first published online: 7 JUN 2006 | DOI: 10.1002/ajmg.a.31289

    2. A new cohort of MECP2 mutation screening in unexplained mental retardation: Careful re-evaluation is the best indicator for molecular diagnosis (pages 1603–1607)

      Anne Donzel-Javouhey, Christel Thauvin-Robinet, Veronica Cusin, Nathalie Madinier, Eric Manceau, Dominique Dipanda, Véronique Dulieu, Francine Mugneret, Frédéric Huet, Jean-Raymond Teyssier and Laurence Faivre

      Article first published online: 8 JUN 2006 | DOI: 10.1002/ajmg.a.31314

    3. The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies (pages 1608–1613)

      Céline de La Rochebrochard, Géraldine Joly-Hélas, Alice Goldenberg, Isabelle Durand, Annie Laquerrière, Valentine Ickowicz, Pascale Saugier-Veber, Danièle Eurin, Hélène Moirot, Alain Diguet, Fabrice de Kergal, Coralie Tiercin, Bertrand Mace, Loïc Marpeau and Thierry Frebourg

      Article first published online: 7 JUN 2006 | DOI: 10.1002/ajmg.a.31227

  6. Book Reviews

    1. Top of page
    2. New Syndrome
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
  7. Correspondence

    1. Top of page
    2. New Syndrome
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Atypical facial clefting in a patient with Goltz syndrome (page 1616)

      Elaine Sbroggio de Oliveira Rodini, Ligiane Alves Machado-Paula, Siulan Vendramini and Maria Leine Guion-Almeida

      Article first published online: 7 JUN 2006 | DOI: 10.1002/ajmg.a.30141

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